Orphan disease: Cherubism, optic atrophy, and short stature

Abstract

A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multiple expansile lytic lesions of mandible suggesting cherubism. The optic atrophy was confirmed on magnetic resonance imaging, which additionally revealed bilateral retrocerebellar arachnoid cysts. This association of cherubism with optic atrophy and short stature was grouped as orphan disease by National Institutes of Health and only one case was reported in the literature so far.

Bilateral Retrocerebellar Arachnoid Cysts Presenting as Peripheral Vertigo: Case Report and Literature Review

“…1. Jeevanandham et al report the case of a 12-year-old girl, who presented with one year of progressive bilateral visual impairment, short stature, and cheek fullness [3]. Fundoscopy revealed bilateral optic nerve atrophy.…”

“…Bilateral retrocerebellar arachnoid cysts are extremely rare with only three other cases reported in the literature [ 3 - 5 ].…”

“…Intracranial arachnoid cysts are found in approximately 1% of the adult population, have a higher prevalence in men, are usually unilateral and asymptomatic, and most commonly occur in the middle fossa [ 1 , 2 ]. Bilateral retrocerebellar arachnoid cysts are extremely rare with only three cases reported in the literature [ 3 - 5 ]. We present another case of this rare pathology.…”